Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Biomarkers of sepsis-induced coagulopathy: diagnostic insights and potential therapeutic implications.

Diagnosing coagulopathy in septic patients remains challenging in intensive care. Disseminated intravascular coagulation (DIC) indeed presents with complex pathophysiology, complicating timely diagnosis. Epidemiological data indicate a significant prevalence of DIC in septic patients, with mortality rates up to 60%.

Respiratory failure as main presentation sign of MAPT-related disorder.

Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.

Feeding interruptions for extubation and other procedures.

Purpose Of Review: The objective of this review is to examine the available evidence concerning feeding interruptions before extubation and other medical procedures in ICUs. We will analyze the physiological mechanisms involved, the potential risks associated with feeding interruptions, as well as the results of recent clinical studies. Additionally, we will explore current practices and recommendations from major professional societies, as well as recent innovations aimed at minimizing feeding interruptions.

Chapter 0: Introduction to the Consensus on Primary Hyperparathyroidism from the French Society of Endocrinology, French Association of Endocrine Surgery and French Society of Nuclear Medicine.

This consensus on primary hyperparathyroidism, drawn up under the aegises of the French Society of Endocrinology (SFE), French Association of Endocrine Surgery (AFCE) and French Society of Nuclear Medicine (SFMN), provides an update on positive, etiological and differential diagnosis and treatment in primary hyperparathyroidism. These recommendations take account of recent increase in the prevalence of primary hyperparathyroidism, due to 1. more systematic routine measurement of blood calcium and improved quality of parathyroid hormone assays, 2.

Chapter 10: WHAT PARATHYROID IMAGING IS REQUIRED FOR HYPERPARATHYROIDISM?

In over 80% of cases, primary hyperparathyroidism results from hypersecretion of PTH by a single parathyroid adenoma. Multi-glandular involvement, combining adenoma and/or hyperplasia in varying proportions, is also possible, although less frequent. When the diagnosis of hyperparathyroidism is certain and surgery is envisaged, imaging is useful for locating the hyperfunctioning gland or glands.

Antagonisation of Prokineticin Receptor-2 Attenuates Preeclampsia Symptoms.

Preeclampsia (PE) is the most threatening pathology of human pregnancy. Placenta from PE patients releases harmful factors that contribute to the exacerbation of the disease. Among these factors is the prokineticin1 (PROK1) and its receptor, PROKR2 that we identified as a mediators of PE.

Manganese overload as a co-factor of neurological symptoms in a patient with sclerosing cholangitis due to Langerhans cell histiocytosis.

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A randomised phase III study of bevacizumab and carboplatin-pemetrexed chemotherapy with or without atezolizumab, as first-line treatment for advanced pleural mesothelioma: results of the ETOP 13 18 BEAT-meso trial.

Background: The currently approved frontline treatments for diffuse pleural mesothelioma (DPM) are ipilimumab-nivolumab or platinum-pemetrexed. The addition of bevacizumab to chemotherapy improves overall survival (OS). While single-agent immunotherapy or chemotherapy-immunotherapy combinations are superior to chemotherapy monotherapy, there is a potential for synergistic triple combination of chemotherapy, bevacizumab, and immunotherapy.

Evaluation of the predictive value of CSF-restricted oligoclonal bands on residual disability and risk of relapse in adult patients with MOGAD: MOGADOC study.

Background: The clinical course of myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is variable. However, robust markers of poor outcome and/or relapse risk are still missing.

Objective: To evaluate the frequency of cerebrospinal fluid-restricted oligoclonal bands (CSF-OCB) in a national cohort of adult MOGAD patients and to assess their prognostic value for the risk of relapse and severity.

Perspectives on the use of decellularized/devitalized and lyophilized human perinatal tissues for bone repair: Advantages and remaining challenges.

Human amniotic membrane (hAM) has been extensively used for several decades as a bioactive scaffold for regenerative medicine. In its cryopreserved form-one of the main storage formats-the presence of viable cells has often been questioned. Furthermore, there is little published evidence of the role of endogenous amniotic cells from cryopreserved hAM in tissue repair.

Cannabis Use Cessation and the Risk of Psychotic Disorders: A Case-Control Analysis from the First Episode Case-Control EU-GEI WP2 Study: L'arrêt de l'utilisation du cannabis et le risque de troubles psychotiques: Une analyse cas-témoins tirée de l'étude cas-témoins EU-GEI WP2 centrée sur les premiers épisodes psychotiques.

Objectives: To establish whether the risk of psychotic disorders in cannabis users changes with time following cannabis cessation using data from the European Network of National Networks studying Gene-Environment Interactions in Schizophrenia (EU-GEI) case-control study.

Methods: The EU-GEI case-control study collected data from first episode psychosis patients and population controls across sites in Europe and Brazil between May 2010 and April 2015. Adjusted logistic regressions were applied to examine whether the odd of psychosis case status changed: (1) with time following cannabis cessation and (2) across different cannabis use groups.

A patient with TPCN2-related hypopigmentation and ocular phenotype.

Pigmentation is orchestrated by hundreds of genes involved in cellular functions going from early developmental fate of pigment cells to melanin synthesis. The Two Pore Channel 2 (TPC2) a Ca2+ and Na+ channel acidifies melanosomal pH and thus inhibits pigmentation. A young patient was recently reported with generalized hypopigmentation but uneventful ocular examination, caused by the de novo heterozygous TPCN2 variant c.

Transarterial Radioembolisation with Y90 Resin Microspheres and the Effect of Reimbursement Criteria in France: Final Results of the CIRT-FR Prospective Observational Study.

Purpose: This analysis of the CIRSE Registry for SIR-Spheres Therapy in France, CIRT-FR, reports on real-world outcomes of transarterial radioembolisation (TARE) with Y90 resin microspheres for hepatocellular carcinoma (HCC) and colorectal cancer liver metastases (CRLM) patients in France, focusing on safety, effectiveness and health-related quality of life (HRQoL). Results on patients treated based on national reimbursement criteria are discussed here.

Methods: Prospective, multicentre, observational study of HCC and CRLM patients treated between August 2017 and July 2020 with TARE Y90 resin microspheres.

Familial History in Ovarian Teratomas Is a Frequent Event: 22 Years' Experience at a Single Center.

Background: Ovarian mature teratoma represents the most common benign neoplasm among pediatric germ cell tumors. This study reports the prevalence and characteristics of familial forms identified in a single center over 22 years in order to better understand possible familial predispositions to ovarian teratoma.

Methods: The records of all patients who were surgically treated for ovarian teratoma between 2000 and 2022 were retrospectively reviewed.

A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.

Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).

Temporomandibular joint septic arthritis: a report of thirteen cases and a systematic review of the literature.

Introduction: Temporomandibular joint (TMJ) septic arthritis is a rare frequently misdiagnosed condition with non-specific symptoms. We present our experience of thirteen cases of TMJ septic arthritis and perform a systematic review of the literature to collate the multiple characteristics of this condition.

Material And Method: A total of 133 cases of TMJ septic arthritis in humans across 62 studies were analyzed by searching PubMed, Cochrane Library, DOAJ and ClinicalTrials.

Usefulness of Cerebrospinal Fluid Alzheimer's disease biomarkers in older patients: Evidence from a national multicenter prospective study.

Background: The use of cerebrospinal (CSF) biomarkers in the diagnosis of Alzheimer's disease (AD) has been gaining interest in clinical practice. Although their usefulness has been demonstrated, their potential value in older patients remains debated.

Objectives: To assess whether knowledge of the results of CSF AD biomarkers was associated with the same gain in diagnostic confidence in older adults > 80 than in younger patients.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.